Genetic and environmental associations of nonspecific chromosomal aberrations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F25%3A00587602" target="_blank" >RIV/68378041:_____/25:00587602 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11140/25:10478587 RIV/00216208:11110/25:10478587

Result on the web

<a href="https://academic.oup.com/mutage/advance-article/doi/10.1093/mutage/geae006/7616513?login=false" target="_blank" >https://academic.oup.com/mutage/advance-article/doi/10.1093/mutage/geae006/7616513?login=false</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/mutage/geae006" target="_blank" >10.1093/mutage/geae006</a>

Result language

angličtina

Original language name

Genetic and environmental associations of nonspecific chromosomal aberrations

Original language description

Nonspecifc structural chromosomal aberrations (CAs) are found in around 1% of circulating lymphocytes from healthy individuals but the fre quency may be higher after exposure to carcinogenic chemicals or radiation. CAs have been used in the monitoring of persons exposed to genotoxic agents and radiation. Previous studies on occupationally exposed individuals have shown associations between the frequency of CAs in peripheral blood lymphocytes and subsequent cancer risk. The cause for CA formation is believed to be unrepaired or insuffciently repaired DNA double-strand breaks or other DNA damage, and additionally telomere shortening. CAs include chromosome (CSAs) and chromatid type aberrations (CTAs). In the present review, we frst describe the types of CAs, the conventional techniques used for their detection and some aspects of interpreting the results. We then focus on germline genetic variation in the frequency and type of CAs measured in a genome-wide association study in healthy individuals in relation to occupational and smoking-related exposure compared to nonexposed referents. The asso ciations (at P < 10–5) on 1473 healthy individuals were broadly classifed in candidate genes from functional pathways related to DNA damage response/repair, including PSMA1, UBR5, RRM2B, PMS2P4, STAG3L4, BOD1, COPRS, and FTO another group included genes related to apoptosis, cell proliferation, angiogenesis, and tumorigenesis, COPB1, NR2C1, COPRS, RHOT1, ITGB3, SYK, and SEMA6A a third small group mapped to genes KLF7, SEMA5A and ITGB3 which were related to autistic traits, known to manifest frequent CAs. Dedicated studies on 153 DNA repair genes showed associations for some 30 genes, the expression of which could be modifed by the implicated variants. We finally point out that monitoring of CAs is so far the only method of assessing cancer risk in healthy human populations, and the use of the technology should be made more attractive by developing automated performance steps and incorporating artifcial intelligence methods into the scoring.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Mutagenesis

ISSN

0267-8357

e-ISSN

1464-3804

Volume of the periodical

40

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

9

Pages from-to

30-38

UT code for WoS article

001184408500001

EID of the result in the Scopus database

2-s2.0-105000299069